Taiwan hospital makes breakthrough in hemophilia screening

09/04/2019 11:17 PM
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CNA file photo
CNA file photo

Taipei, Sept. 4 (CNA) A research team at Tri-Service General Hospital in Taipei has developed a screening technique to more accurately identify genetic defects that cause mild classic hemophilia, the head of the hospital's hemophilia center said Wednesday.

Classic hemophilia, also known as hemophilia A, is a genetic disorder caused by a missing or defective factor VIII, which is a clotting protein, Chen Yeu-chin (陳宇欽), head of the hospital's hemophilia center, said at a press conference.

Some 1,000 people in Taiwan have been diagnosed with classic hemophilia, which can cause bleeding in the joints and eventually severely restrict the patient's movements, Chen said.

In Taiwan, 99 percent of classic hemophilia patients are males, with the abnormal chromosome either coming from their mother or occurring as a result of mutation, according to Chen.

The gene for hemophilia is a recessive one carried on the X chromosome, and a male will usually inherit the X chromosome carrying hemophilia from his mother, even though she may not have the disease, Chen said.

The detection rate among people with a family history of classic hemophilia has been around 92 percent in Taiwan, Chen said.

After 12 years of research, however, the hospital team has made a breakthrough in the analysis of genes, developing a technique that has increased the detection rate of classic hemophilia from 92 percent to 98 percent, he said.

The research findings were published in the July edition of the European Journal of Haematology, according to the hospital.

(By Chang Min-hsuan and Elizabeth Hsu)

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